CDR1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the CDR1 gene was identified in a male, age 10, with seizures, structural brain abnormalities, and global developmental delay (read full description).

Date of Report

Mar 07, 2022

Full Name

Cerebellar Degeneration Related Protein 1

Location

Chromosome X (Xq27.1)

Function

The CDR1 gene encodes for a transport protein known as an efflux pump. This protein has been found to be present in the human brain, but its exact function has not been fully established (Lamping, et al., 2009).

Database Links

GeneCards: CDR1

NCBI Gene: 1038

OMIM: 302650

UniProtKB/Swiss-Prot: P51861

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene CDR1

Inheritance Pattern Unknown

Position (hg19) chr2:g.139865989_139866025del

Transcript NM_004065.2

DNA Change c.524_560del

Protein Change p.Leu175HisfsTer28

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